Clinical correlations biochemistry

Front

Disorders of fatty acid oxidation present with the general picture of _____ and _____ due to decreased availability of acetyl CoA and increased reliance on glucose for energy.

Back

hypoketosis, hypoglycemia

Front

Mutation in __________ results in Tangier disease, characterized by significantly reduced HDL, mild hypertriglyceridemia, and enlarged, orange-colored tonsils.

Back

ABCA1

Front

Mutation associated with Menkes disease is found in which gene?

Back

ATP7A

Front

What is the result of a mutation in methylmalonyl CoA mutase?

Back

methylmalonic acidemia

Front

Symptoms of hereditary hemochromatosis include:

Back

Hyperpigmentation, hyperglycemia, lower levels of hepcidin.

Front

What is the role of acetyl CoA in fatty acid metabolism?

Back

Acetyl CoA is a key substrate for the synthesis and oxidation of fatty acids.

Front

Define hypoketosis.

Back

A condition characterized by low levels of ketone bodies in the blood.

Front

What is the significance of HDL in lipid metabolism?

Back

HDL (High-Density Lipoprotein) is responsible for transporting cholesterol from the tissues back to the liver.

Front

What are the clinical features of methylmalonic acidemia?

Back

Symptoms may include developmental delay, vomiting, and metabolic acidosis.

Front

What is the function of the ATP7A gene?

Back

ATP7A is involved in copper transport and metabolism.